Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
Zirui DongMatthew Hoi Kin ChauYanyan ZhangZhenjun YangMengmeng ShiYi Man WahYvonne K KwokTak Yeung LeungCynthia C MortonKwong-Wai ChoyPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Overall, our study demonstrates the feasibility of AOH analysis (≥5 Mb) with low-pass GS data and shows high concordance compared with CMA.